ClinVar Miner

Submissions for variant NM_018117.12(WDR11):c.1583_1584delinsC (p.Ser528fs)

dbSNP: rs2133771090
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001761082 SCV001998644 uncertain significance not provided 2020-01-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016)

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